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NM_013352.4(DSE):c.2233A>T (p.Asn745Tyr) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 20, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002807812.2

Allele description [Variation Report for NM_013352.4(DSE):c.2233A>T (p.Asn745Tyr)]

NM_013352.4(DSE):c.2233A>T (p.Asn745Tyr)

Gene:
DSE:dermatan sulfate epimerase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q22.1
Genomic location:
Preferred name:
NM_013352.4(DSE):c.2233A>T (p.Asn745Tyr)
HGVS:
  • NC_000006.12:g.116436701A>T
  • NG_033266.4:g.187531A>T
  • NM_001080976.3:c.2233A>T
  • NM_001322937.2:c.2233A>T
  • NM_001322938.2:c.2233A>T
  • NM_001322939.2:c.2290A>T
  • NM_001322940.2:c.1672A>T
  • NM_001322941.2:c.1672A>T
  • NM_001322943.2:c.*1098A>T
  • NM_001322944.2:c.*1098A>T
  • NM_001374520.1:c.1234A>T
  • NM_001374521.1:c.1198A>T
  • NM_013352.4:c.2233A>TMANE SELECT
  • NP_001074445.1:p.Asn745Tyr
  • NP_001309866.1:p.Asn745Tyr
  • NP_001309867.1:p.Asn745Tyr
  • NP_001309868.1:p.Asn764Tyr
  • NP_001309869.1:p.Asn558Tyr
  • NP_001309870.1:p.Asn558Tyr
  • NP_001361449.1:p.Asn412Tyr
  • NP_001361450.1:p.Asn400Tyr
  • NP_037484.1:p.Asn745Tyr
  • LRG_1184t1:c.2233A>T
  • LRG_1184:g.187531A>T
  • LRG_1184p1:p.Asn745Tyr
  • NC_000006.11:g.116757864A>T
  • NM_013352.2:c.2233A>T
  • NR_136524.2:n.2249A>T
Protein change:
N400Y
Molecular consequence:
  • NM_001322943.2:c.*1098A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001322944.2:c.*1098A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001080976.3:c.2233A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322937.2:c.2233A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322938.2:c.2233A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322939.2:c.2290A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322940.2:c.1672A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322941.2:c.1672A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374520.1:c.1234A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374521.1:c.1198A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013352.4:c.2233A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136524.2:n.2249A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003579982Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 20, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003579982.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.2233A>T (p.N745Y) alteration is located in exon 6 (coding exon 5) of the DSE gene. This alteration results from a A to T substitution at nucleotide position 2233, causing the asparagine (N) at amino acid position 745 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024